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IGH/BCL1 (CCND1) t(11;14) by FISH

Test Code

F BCL1; FP BCL1

Test Synonyms

t(11;14)(q13;q32), IGH/CCND1; Cyclin D1

Associations

B-cell lymphoma, Non-Hodgkin lymphoma (NHL), Mantle cell lymphoma (MCL)

Methodology

Fluorescence in situ Hybridization (FISH)

Turnaround Time

3-5 days

Specimen Requirements

F BCL1
5mL peripheral blood in sodium heparin
3mL bone marrow in sodium heparin
Fixed cytogenetically prepared cells in sterile centrifuge tube with pellet visible in 3:1, Methanol:Acetic Acid

FP BCL1
FFPE tissue is acceptable for FISH analysis. Preferred fixative is 10% neutral buffered formalin. Tissues preserved in B5 fixative or decalcified are usually not suitable for FISH. Tumor sections cut 3-5 µm thick and mounted on positively charged organosilane coated (silanized) slides work well. Request several unstained sections (two for each probe) and one H&E stained slide

Specimen Stability
Blood and bone marrow = 4°C to 25°C, specimens are stable up to 72 hours
Fixed cell pellets are stable for years when stored at -28°C to 15°C
FFPE Stable indefinitely when stored at 20°C to 25°C
Storage & Handling

4°C to 25°C during transit, but specimens may be transported on refrigerated gel packs. Do not allow the gel pack to come in contact with the specimen. Do not freeze. Extreme temperatures should be avoided.

Causes for Rejection

Clotted specimen; Specimen exposed to extreme temperature; Anticoagulant toxic to cells; Insufficient number of cells; Improper fixative

Reference Range

FISH results indicate whether translocation is present or absent. A normal signal pattern results in two orange signals and two green signals. A t(11;14) results in a signal pattern of two orange/green (yellow) fusions, one on each of the abnormal chromosomes 11 and 14 and single orange and green signals from the normal chromosomes.

Description

Mantle cell lymphoma can be difficult to distinguish morphologically from other B-cell malignant lymphomas. The translocation probe is designed to detect the juxtaposition of the IGH locus (14q32) next to the CCND1 (cyclin D1) gene (11q13) in both metaphase and interphase nuclei. This altered location of the IGH locus is thought to cause over expression of cyclin D1 in mantle cell lymphomas.

The t(11;14)(q13;q32) can be detected in approximately 95% of mantle cell lymphomas by FISH analysis. In contrast, PCR can detect the t(11;14) in 30-60% of cases, chromosome analysis can detect up to 70%, and Southern blot up to 50% of the translocations. This assay is an excellent alternative to immunoperoxidase detection of cyclin D1 over expression.

References
  1. Gu et al. (2004). Evaluation of peripheral blood involvement of mantle cell lymphoma by fluorescence in situ hybridization in comparison with immunophenotypic and morphologic findings. Mod Pathol. 17(5):553.
  2. Sun et al. (2003). Fluorescence in situ hybridization: method of choice for a definitive diagnosis of mantle cell lymphoma. Am J Hematol. 74(1):78.
  3. Li et al. (1999). Detection of translocation t(11;14)(q13;q32) in mantle cell lymphoma by fluorescence in situ hybridization. Am. J. Pathology. 154:51449.
  4. Kluin et al. (1997). FISH and related techniques in the diagnosis of lymphoma. Cancer Surv. 30:3.